A spinocerebellaris ataxiák klinikuma és diagnosztikája.

Translated title of the contribution: Clinical features and diagnosis of spinocerebellar ataxia

P. Klivényi, Zoltán Horváth, L. Vécsei

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

In the past decade, a great progress has been made in understanding genetic basis of the spinocerebellar ataxia. Based upon the genotypes, more then 20 subgroups of autosomal dominant spinocerebellar ataxia have been identified with different gene mutations. Neither the pathomechanism nor the function of these genes is fully understood. In these disorders the main clinical sign is ataxia. Other symptoms may be present as well, but no specific clinical feature is known for differentiating subgroups. Specific diagnosis can be made by genetic tests. In this review we summarize the clinical features and genetic backgrounds of the most common spinocerebellar ataxias.

Original languageHungarian
Pages (from-to)11-22
Number of pages12
JournalIdeggyógyászati szemle
Volume57
Issue number1-2
Publication statusPublished - Jan 20 2004

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Spinocerebellar Ataxias
Ataxia
Genes
Genotype
Mutation

ASJC Scopus subject areas

  • Medicine(all)

Cite this

A spinocerebellaris ataxiák klinikuma és diagnosztikája. / Klivényi, P.; Horváth, Zoltán; Vécsei, L.

In: Ideggyógyászati szemle, Vol. 57, No. 1-2, 20.01.2004, p. 11-22.

Research output: Contribution to journalArticle

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